Revel Score:
ENST00000435489
0.191
ENST00000311946 (MANE Select)
0.191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471786C>G , CM000667.2:g.157471786C>G | GRCh38 |
| NC_000005.9:g.156898794C>G , CM000667.1:g.156898794C>G | GRCh37 |
| NC_000005.8:g.156831372C>G | NCBI36 |
| NG_016626.1:g.16768C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.555C>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Ile185Met | |
| ENST00000435489.7:c.498C>G (NIPAL4) | ENSP00000406456.3:p.Ile166Met | |
| ENST00000311946.7:c.741C>G (NIPAL4) | ENSP00000311687.7:p.Ile247Met | |
| ENST00000435489.6:c.684C>G (NIPAL4) | ENSP00000406456.2:p.Ile228Met | |
| ENST00000517951.5:c.*1741+16479G>C (ADAM19) | ENSP00000428376.1:n.*1741+16479G>C | |
| ENST00000519150.1:c.653C>G (NIPAL4) | ENSP00000430810.1:n.653C>G | |
| NM_001099287.1:c.741C>G (NIPAL4) | NP_001092757.1:p.Ile247Met | |
| NM_001172292.1:c.684C>G (NIPAL4) | NP_001165763.1:p.Ile228Met | |
| XM_011534552.1:c.246C>G (NIPAL4) | XP_011532854.1:p.Ile82Met | |
| XM_024446043.1:c.42C>G (NIPAL4) | XP_024301811.1:p.Ile14Met | |
| NM_001099287.2:c.555C>G (NIPAL4) MANE Select | NP_001092757.2:p.Ile185Met |